Onderzoeker
Wouter Steyaert
- Disciplines:Palliatieve zorg en zorg rond het levenseinde, Laboratoriumgeneeskunde, Andere translationele wetenschappen, Regeneratieve geneeskunde, Verpleegkunde, Andere klinische wetenschappen, Andere basiswetenschappen, Andere paramedische wetenschappen, Andere gezondheidswetenschappen, Andere medische en gezondheidswetenschappen
Affiliaties
- Vakgroep Biomoleculaire Geneeskunde (Departement)
Lid
Vanaf1 okt 2018 → Heden - Vakgroep Pediatrie en genetica (Departement)
Lid
Vanaf1 okt 2011 → 30 sep 2018
Publicaties
1 - 10 van 32
- Exploring the mutational landscape of isolated congenital heart defects : an exome sequencing study using cardiac DNA(2022)
Auteurs: Ilse Meerschaut, Wouter Steyaert, Thierry Bové, Katrien Francois, Thomas Martens, Katya De Groote, Hans De Wilde, Laura Muiño Mosquera, Joseph Panzer, Kristof Vandekerckhove, et al.
- Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model(2021)
Auteurs: Wouter Steyaert, Olivier Vanakker
Pagina's: 289 - 299 - Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)(2020)
Auteurs: Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed, Sergio Guerrero-Castillo, Peter Freisinger, Brecht Guillemyn, Ariana Kariminejad, Daisy Dalloyaux, Sanne van Kraaij, Dirk J. Lefeber, et al.
Pagina's: 374 - 374 - A clinical scoring system for congenital contractural arachnodactyly(2020)
Auteurs: Ilse Meerschaut, Wouter Steyaert, Angela Barnicoat, Allan Bayat, Francesco Benedicenti, Siren Berland, Edward M. Blair, Jeroen Breckpot, Anna de Burca, Anne Destrée, et al.
Pagina's: 124 - 131 - Two novel probands with Myhre syndrome identified through WES(2019)Volume: 27
Auteurs: Ilse Meerschaut, Aude Beyens, Wouter Steyaert, Riet De Rycke, Björn Menten, Katrien Bonte, Tine De Backer, Sandra Janssens, Fransiska Malfait, Joseph Panzer, et al.
Pagina's: 118 - 118 - Myhre syndrome : a first familial recurrence and broadening of the phenotypic spectrum(2019)
Auteurs: Ilse Meerschaut, Aude Beyens, Wouter Steyaert, Riet De Rycke, Katrien Bonte, Tine De Backer, Sandra Janssens, Joseph Panzer, Frank Plasschaert, Daniël De Wolf, et al.
Pagina's: 2494 - 2499 - Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines for the interpretation of sequenced variants in the FBN1 gene for Marfan syndrome : proposal for a disease- and gene-specific guideline(2018)
Auteurs: Felke Steijns, Tjorven Audenaert, Ilse Meerschaut, Wouter Steyaert, Bert Callewaert, Marjolijn Renard
- Future perspectives of genome-scale sequencing(2018)
Auteurs: Wouter Steyaert, Bart Dermaut, Dimitri Hemelsoet, Wim Terryn, Bruce Poppe
Pagina's: 7 - 10 - IRF2BPL is associated with neurological phenotypes(2018)
Auteurs: Paul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, Nicholas Stong, Jill A Rosenfeld, Mary Kay Koenig, Julian A Martínez-Agosto, Matthew Herzog, Agnes H Chen, Patricia I Dickson, et al.
Pagina's: 245 - 260 - CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments(2018)
Auteurs: Annekatrien Boel, Hanna De Saffel, Wouter Steyaert, Bert Callewaert, Anne De Paepe, Paul Coucke, Andy Willaert